Retrospective identification of prenatal fetal anomalies associated with diagnostic neonatal genomic sequencing results.

ABSTRACT:

Objective

To determine which types of fetal anomalies are associated with postnatal diagnoses of genetic diseases by genomic sequencing and to assess how prenatal genomic sequencing could affect clinical management.

Method

This was a secondary analysis of the second Newborn Sequencing in Genomic Medicine and Public Health study that compared fetal imaging results in critically ill infants who had actionable versus negative postnatal genomic sequencing results.

Results

Of 213 infants who received genomic sequencing, 80 had available prenatal ultrasounds. Twenty-one (26%) of these were found to have genetic diseases by genomic sequencing. Fourteen (67%) of the 21 with genetic diseases had suspected anomalies prenatally, compared with 33 (56%) of 59 with negative results

SUBMITTER: Zhang-Rutledge K 

PROVIDER: S-EPMC9886440 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature